Canonical Allele Identifier: CA1162023566

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.34761463C= , CM000663.2:g.34761463C= GRCh38
NC_000001.10:g.35227064C= , CM000663.1:g.35227064C= GRCh37
NC_000001.9:g.34999651C= NCBI36
NG_016243.1:g.6723C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000339480.3:c.209C= (GJB4) MANE Select ENSP00000345868.1:p.Pro70=
ENST00000339480.1:c.209C= (GJB4) ENSP00000345868.1:p.Pro70=
ENST00000426886.1:c.208-43054G= (SMIM12) ENSP00000429902.1:n.208-43054G=
NM_153212.2:c.209C= (GJB4) NP_694944.1:p.Pro70=
XM_011540679.1:c.209C= (GJB4) XP_011538981.1:p.Pro70=
XR_947179.1:n.1002-18014G=
XM_011540679.2:c.209C= (GJB4) XP_011538981.1:p.Pro70=
XR_001737967.1:n.1023+36908G=
NM_153212.3:c.209C= (GJB4) MANE Select NP_694944.1:p.Pro70=